H1-4 (H1.4 linker histone, cluster member)

Gene Gene information from NCBI Gene database.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 3008
Gene name H1.4 linker histone, cluster member
Gene symbol H1-4
Synonyms (NCBI Gene)
H1.4H1EH1F4H1s-4HIST1H1ERMNSdJ221C16.5
Chromosome 6
Chromosome location 6p22.2
Summary Histones are basic nuclear proteins responsible for nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
23
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (23)
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0000785 Component Chromatin IEA
GO:0000786 Component Nucleosome IEA
GO:0000791 Component Euchromatin IBA
GO:0000792 Component Heterochromatin IDA 15911621
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
142220 4718 ENSG00000168298
Protein Protein information from UniProt database.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P10412
Protein name Histone H1.4 (Histone H1b) (Histone H1s-4)
Protein function Histone H1 protein binds to linker DNA between nucleosomes forming the macromolecular structure known as the chromatin fiber. Histones H1 are necessary for the condensation of nucleosome chains into higher-order structured fibers. Also acts as a
PDB 3TZD , 5JJZ , 6H8P , 7K5Y , 7K63 , 7PET , 7PEU , 7PEX , 7PEZ , 7PF0 , 7PF2 , 7PF3 , 7PF5 , 7PF6 , 7PFA , 7PFC , 7PFD , 7PFE , 7PFT , 7PFU , 7PFV , 7PFW , 7PFX , 8H1T , 8VG2 , 9DDE
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00538 Linker_histone 37 → 108 linker histone H1 and H5 family Domain
Sequence 
MSETAPAAPAAPAPAEKTPVKKKARKSAGAAKRKASGPPVSELITKAVAASKERSGVSLA
ALKKALAAAGYDVEKNNSRIKLGLKSLVSKGTLVQTKGTGASGSFKLNKKAASGEAKPKA
KKAGAAKAKKPAGAAKKPKKATGAATPKKSAKKTPKKAKKPAAAAGAKKAKSPKKAKAAK
PKKAPKSPAKAKAVKPKAAKPKTAKPKAAKPKKAAAKKK
Sequence length 219
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Apoptosis induced DNA fragmentation
Formation of Senescence-Associated Heterochromatin Foci (SAHF)
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
59
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (7)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Auditory neuropathy spectrum disorder Pathogenic rs1131690806 RCV003984842
H1-4-related disorder Pathogenic rs2480693825 RCV003397600
HIST1H1E-related neurodevelopmental disorder with multiple anomalies Pathogenic rs768525914 RCV002508301
Multiple myeloma Likely pathogenic rs951047896 RCV000984116
Show/Hide Unknown Diseases (3)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Developmental disorder Likely benign rs139427516 RCV001843820
See cases Uncertain significance rs1764193211 RCV001198436
Syndromic intellectual disability Uncertain significance rs759421998 RCV005358093